Gene Dx, UBE3A Gene Analysis for Angelman Syndrome

Message

Collect at NMCP only Mon-Thursday by 1200. Sample Submission (Requisition) Form – complete all pages

Test Code

374

CPT Codes
81406x1

Preferred Specimen

Blood: A single tube with 2-5 mL whole blood in EDTA Lavender Top Tube (1-2mL for infants).

Instructions

Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for one week prior to shipping

Transport Temperature

Ambient

Report Available

6-7 weeks

Clinical Significance

Angelman syndrome (AS) is a neurological disorder affecting development and behavior. Individuals with Angelman syndrome exhibit developmental and cognitive delays typically noted in the first year of life, including absent or significantly impaired speech. Neurological features include seizures, ataxia, and characteristic electroencephalogram (EEG) abnormalities. Characteristic behavioral features include sleep disorders and a happy demeanor with recurrent laughter, smiling, and excitability. Individuals with AS are typically noted to have prominent chin, small head circumference and a wide mouth with protruding tongue. The presence and severity of the clinical features can vary among individuals with AS. 1 Males with Angelman-like (Christianson) syndrome may exhibit many clinical features suggestive of Angelman syndrome such as mental retardation, ataxia, severe speech and language impairment, a happy demeanor with frequent smiling or spontaneous laughter, epilepsy, and microcephaly.2,3 Mutations in the SLC9A6 gene have also been identified in families with nonsyndromic X-linked intellectual disability.10,11

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.